Abstract：
Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation (MOGS-CDG) is determined by biallelic mutations in the mannosyl-oligosaccharide glucosidase (glucosidase I) gene. MOGS-CDG is a rare disorder affecting the processing of N-Glycans (CDG type II) and is characterized by prominent neurological involvement including hypotonia, developmental delay, seizures and movement disorders. To the best of our knowledge, 30 patients with MOGS-CDG have been published so far. We described a child who is compound heterozygous for two novel variants in the MOGS gene. He presented Early Infantile Developmental and Epileptic Encephalopathy (EI-DEE) in the absence of other specific systemic involvement and unrevealing first-line biochemical findings. In addition to the previously described features, the patient presented a Hirschprung disease, never reported before in individuals with MOGS-CDG.
摘要：
甘露糖基-寡糖葡糖苷酶-先天性糖基化障碍（MOGS-CDG）由甘露糖基-寡糖葡糖苷酶（葡糖苷酶I）基因中的双等位基因突变决定。MOGS-CDG是一种罕见的疾病，影响N-Glycan（CDGII型）的加工，其特征是突出的神经系统受累，包括张力减退，发育迟缓,癫痫发作和运动障碍。据我们所知,到目前为止，已经发表了30例MOGS-CDG患者。我们描述了一个孩子，他是MOGS基因中两个新变体的复合杂合。他介绍了早期婴儿发育和癫痫性脑病（EI-DEE），但没有其他特定的全身受累和一线生化发现。除了前面描述的功能，病人出现了Hirschprung病,以前从未在MOGS-CDG患者中报告过。
